Delayed Myelination Pattern and an Abnormal Thyroid Profile Caused by a Novel Mutation in the SLC16A2 Gene
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s12098-020-03459-w.pdf
Reference5 articles.
1. Shimojima K, Maruyama K, Kikuchi M, Imai A, Inoue K, Yamamoto T. Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome. Intractable Rare Dis Res. 2016;5:214–7.
2. Schwartz CE, Stevenson RE. The MCT8 thyroid hormone transporter and Allan--Herndon-Dudley syndrome. Best Pract Res Clin Endocrinol Metab. 2007;21:307–21.
3. Remerand G, Boespflug-Tanguy O, Tonduti D, et al. Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations. Dev Med Child Neurol. 2019;61:1439–47.
4. Dumitrescu AM, Liao X-H, Best TB, Brockmann K, Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet. 2004;74:168–75.
5. Holden KR, Zuñiga OF, May MM, et al. X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype. J Child Neurol. 2005;20:852–7.
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Identification of a novel nonsense SLC16A2 gene mutation in an infant with severe neurologic phenotype: A case report;Medicine;2024-07-19
2. Movement Disorder Perspectives on Monocarboxylate 8 Deficiency: A Case Series of 3 Colombian Patients with Allan–Herndon–Dudley Syndrome;Movement Disorders Clinical Practice;2024-03-07
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